The parkinsonian phenotype of spinocerebellar ataxia type 3 in a Taiwanese family

Lu, Chin‐Song; Chang, Hsiu‐Chen; Kuo, Pei-Chi; Liu, Yu-Lun; Wu, Wen-Shiang; Weng, Yi-Hsin; Yen, Tzu‐Chen; Chou, Yah‐Huei Wu

doi:10.1016/j.parkreldis.2004.03.009

Cited by 56 publications

(38 citation statements)

References 14 publications

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“…Another possibility is that the reduced expression of dopamine transporters represents early stage of nigrostriatal pathway degeneration (Lu et al 2004;Wü llner et al 2005). Our preliminary data also reveal reduced dopamine transporter expression in striatum in patients with TH and AADC deficiency (Fig.…”

Section: Functional Imaging Of Paediatric Neurotransmitter Diseasessupporting

confidence: 52%

Neuroimaging findings in children with paediatric neurotransmitter diseases

Lee

Weng

Peng

et al. 2009

J of Inher Metab Disea

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Paediatric neurotransmitter diseases consist of a group of inherited neurometabolic diseases in children, and include disorders related to gamma-amino butyric acid (GABA) metabolism, monoamine biosynthesis, etc. The diagnosis of paediatric neurotransmitter diseases remain a great challenge for paediatricians and child neurologists. In addition to clinical manifestations and CSF neurotransmitter measurement, neuroimaging findings can also be very informative for the diagnosis and evaluation of the patients. For patients with monoamine biosynthesis disorders, the functional evaluation of dopaminergic transmission also plays an important role. Understanding of the possible neuroimaging changes in paediatric neurotransmitter diseases is therefore of great value for the investigation of these patients.

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Section: Functional Imaging Of Paediatric Neurotransmitter Diseasessupporting

confidence: 52%

Neuroimaging findings in children with paediatric neurotransmitter diseases

Lee

Weng

Peng

et al. 2009

J of Inher Metab Disea

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“…Recently, a variety of extrapyramidal motor symptoms in SCA3 have been reported, in which Parkinsonism and dystonia are prominent [12][13][14]. Patient 1 had involuntary face movement, gait difficulty with fluctuation and an extra long CAG repeat expansion of 81.…”

Section: Discussionmentioning

confidence: 99%

Chinese patients with spinocerebellar ataxia type 3 presenting with rare clinical symptoms

Dong

Sun

Wang

et al. 2013

Journal of the Neurological Sciences

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“…This raises the diagnostic possibility of a spinocerebellar atrophy (SCA), such as SCA-2 or SCA-3 (12,13). Genetic testing ruled out the common forms of SCA and the neuroimaging findings proved diagnostic.…”

Section: Discussionmentioning

confidence: 99%

The Ocular Motor Features of Adult-Onset Alexander Disease: A Case and Review of the Literature

Pfeffer

Abegg

Vertinsky

et al. 2011

Journal of Neuro-Ophthalmology

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A 51-year-old Chinese man presented with gaze-evoked nystagmus, impaired smooth pursuit and vestibular ocular reflex cancellation, and saccadic dysmetria, along with a family history suggestive of late-onset autosomal dominant parkinsonism. MRI revealed abnormalities of the medulla and cervical spinal cord typical of adult-onset Alexander disease, and genetic testing showed homozygosity for the p.D295N polymorphic allele in the gene encoding the glial fibrillary acidic protein. A review of the literature shows that ocular signs are frequent in adult-onset Alexander disease, most commonly gaze-evoked nystagmus, pendular nystagmus, and/or oculopalatal myoclonus, and less commonly ptosis, miosis, and saccadic dysmetria. These signs are consistent with the propensity of adult-onset Alexander disease to cause medullary abnormalities on neuroimaging.

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The parkinsonian phenotype of spinocerebellar ataxia type 3 in a Taiwanese family

Cited by 56 publications

References 14 publications

Neuroimaging findings in children with paediatric neurotransmitter diseases

Neuroimaging findings in children with paediatric neurotransmitter diseases

Chinese patients with spinocerebellar ataxia type 3 presenting with rare clinical symptoms

The Ocular Motor Features of Adult-Onset Alexander Disease: A Case and Review of the Literature

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